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Items: 1 to 20 of 298

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv6130873insertion1nstd186human GRCh37 chr21: 44,029,975-44,030,025 , GRCh38.p12 chr21: 42,609,865-42,609,915 LINC01671
    nsv5956971copy number variation1nstd209human GRCh38 chr21: 42,609,948-42,609,998 , GRCh37.p13 chr21: 44,030,058-44,030,108 LINC01671
    nsv5670066insertion1nstd207human GRCh38 chr21: 42,615,560-42,615,560 , GRCh37.p13 chr21: 44,035,670-44,035,670 LINC01671
    nsv5664870insertion1nstd207human GRCh38 chr21: 42,609,915-42,609,915 , GRCh37.p13 chr21: 44,030,025-44,030,025 LINC01671
    nsv5546652insertion1nstd206human GRCh38 chr21: 42,609,865-42,609,915 , GRCh37.p13 chr21: 44,029,975-44,030,025 LINC01671
    nsv5360323translocation1nstd200human GRCh38 chr21: 42,599,631-42,599,631 , GRCh38 chr21: 42,599,467-42,599,467 , GRCh37.p13 chr21: 44,019,741-44,019,741 , GRCh37.p13 chr21: 44,019,577-44,019,577 LINC01671
    nsv5035581copy number variation1nstd200human GRCh38 chr21: 42,522,727-42,734,539 , GRCh37.p13 chr21: 43,942,837-44,154,649 , LOC101928255, 6 more genes
    nsv5032067copy number variation1nstd200human GRCh38 chr21: 42,601,375-42,605,000 , GRCh37.p13 chr21: 44,021,485-44,025,110 LINC01671
    nsv4869299copy number variation1nstd200human GRCh37 chr21: 43,942,837-44,154,649 , GRCh38.p12 chr21: 42,522,727-42,734,539 , LINC01671, 6 more genes
    nsv4756785insertion1nstd199human GRCh37 chr21: 44,030,043-44,030,043 , GRCh38.p12 chr21: 42,609,933-42,609,933 LINC01671
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 SLX9, LOC105372750, 619 more genes
    nsv4681891copy number variation1nstd102humanUncertain significance GRCh37 chr21: 43,792,871-46,330,697 , GRCh38.p12 chr21: 42,372,762-44,910,782 DNMT3L-AS1, WDR4, 100 more genes
    nsv4679909copy number variation1nstd189human GRCh37.p13 chr21: 43,824,813-44,042,721 , GRCh38.p12 chr21: 42,404,704-42,622,611 UBASH3A, SLC37A1, 6 more genes
    nsv4679490copy number variation1nstd189human GRCh37.p13 chr21: 43,823,922-44,020,738 , GRCh38.p12 chr21: 42,403,813-42,600,628 UBASH3A, SLC37A1, 6 more genes
    nsv4679058copy number variation1nstd189human GRCh37.p13 chr21: 14,468,835-48,129,895 , GRCh38.p12 chr21: 13,096,514-46,699,983 , ADARB1, 652 more genes
    nsv4676376copy number variation1nstd102humanPathogenic GRCh37 chr21: 43,472,147-48,097,372 , GRCh38.p12 chr21: 42,052,038-46,677,460 LOC101928369, MTND6P21, 157 more genes
    nsv4676372copy number variation1nstd102humanPathogenic GRCh37 chr21: 39,410,438-45,171,756 , GRCh38.p12 chr21: 38,038,136-43,751,875 KCNJ15, SPATA20P1, 126 more genes
    nsv4676321copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,044,877-48,100,155 , GRCh38.p12 chr21: 40,672,951-46,680,243 SLC19A1, LINC03039, 183 more genes
    nsv4676276copy number variation1nstd102humanUncertain significance GRCh37 chr21: 43,945,335-44,153,298 , GRCh38.p12 chr21: 42,525,225-42,733,188 LOC101928212, LOC107987299, 5 more genes
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